Affiliation
Department of Neurology, Wayne State University, Detroit, MI 48201, USA. csiskind@med.wayne.eduIssue Date
2011-06MeSH
AdolescentAdult
Aged
Aged, 80 and over
Charcot-Marie-Tooth Disease
Child
Electrophysiology
Female
Genetic Diseases, X-Linked
Humans
Middle Aged
Neural Conduction
Pedigree
Phenotype
X Chromosome Inactivation
Young Adult
Metadata
Show full item recordCitation
Phenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.Journal
Journal of the peripheral nervous system : JPNSDOI
10.1111/j.1529-8027.2011.00332.xPubMed ID
21692908Abstract
Charcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.Item Type
ArticleLanguage
enISSN
1529-8027ae974a485f413a2113503eed53cd6c53
10.1111/j.1529-8027.2011.00332.x
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